Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5303 | 16132;16133;16134 | chr2:178733386;178733385;178733384 | chr2:179598113;179598112;179598111 |
| N2AB | 4986 | 15181;15182;15183 | chr2:178733386;178733385;178733384 | chr2:179598113;179598112;179598111 |
| N2A | 4059 | 12400;12401;12402 | chr2:178733386;178733385;178733384 | chr2:179598113;179598112;179598111 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs72648934  |
-0.399 | 0.001 | N | 0.113 | 0.065 | 0.134241683229 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/S | rs72648934 |
-0.399 | 0.001 | N | 0.113 | 0.065 | 0.134241683229 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | rs72648934 |
-0.399 | 0.001 | N | 0.113 | 0.065 | 0.134241683229 | gnomAD-4.0.0 | 4.33804E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08573E-06 | 0 | 1.60123E-05 |
| A/T | rs72648934 |
-0.392 | 0.035 | N | 0.161 | 0.096 | 0.171388866994 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96091E-04 | None | 0 | 1.78E-05 | 0 |
| A/T | rs72648934 |
-0.392 | 0.035 | N | 0.161 | 0.096 | 0.171388866994 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.21375E-04 | 0 |
| A/T | rs72648934 |
-0.392 | 0.035 | N | 0.161 | 0.096 | 0.171388866994 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| A/T | rs72648934 |
-0.392 | 0.035 | N | 0.161 | 0.096 | 0.171388866994 | gnomAD-4.0.0 | 1.98296E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47629E-06 | 2.30572E-04 | 1.60067E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5934 | likely_pathogenic | 0.5929 | pathogenic | -0.803 | Destabilizing | 0.944 | D | 0.329 | neutral | None | None | None | None | N |
| A/D | 0.4299 | ambiguous | 0.4527 | ambiguous | -0.269 | Destabilizing | 0.324 | N | 0.34 | neutral | N | 0.506878524 | None | None | N |
| A/E | 0.4066 | ambiguous | 0.4164 | ambiguous | -0.331 | Destabilizing | 0.241 | N | 0.318 | neutral | None | None | None | None | N |
| A/F | 0.4057 | ambiguous | 0.445 | ambiguous | -0.63 | Destabilizing | 0.818 | D | 0.391 | neutral | None | None | None | None | N |
| A/G | 0.1471 | likely_benign | 0.1507 | benign | -0.557 | Destabilizing | 0.001 | N | 0.144 | neutral | N | 0.512224768 | None | None | N |
| A/H | 0.5948 | likely_pathogenic | 0.6132 | pathogenic | -0.427 | Destabilizing | 0.818 | D | 0.363 | neutral | None | None | None | None | N |
| A/I | 0.3451 | ambiguous | 0.385 | ambiguous | -0.131 | Destabilizing | 0.69 | D | 0.341 | neutral | None | None | None | None | N |
| A/K | 0.7003 | likely_pathogenic | 0.7104 | pathogenic | -0.691 | Destabilizing | 0.241 | N | 0.312 | neutral | None | None | None | None | N |
| A/L | 0.2407 | likely_benign | 0.2537 | benign | -0.131 | Destabilizing | 0.388 | N | 0.313 | neutral | None | None | None | None | N |
| A/M | 0.3406 | ambiguous | 0.3609 | ambiguous | -0.44 | Destabilizing | 0.932 | D | 0.341 | neutral | None | None | None | None | N |
| A/N | 0.3125 | likely_benign | 0.3136 | benign | -0.549 | Destabilizing | 0.241 | N | 0.335 | neutral | None | None | None | None | N |
| A/P | 0.1137 | likely_benign | 0.1158 | benign | -0.181 | Destabilizing | 0.896 | D | 0.353 | neutral | N | 0.460580718 | None | None | N |
| A/Q | 0.4647 | ambiguous | 0.4689 | ambiguous | -0.664 | Destabilizing | 0.69 | D | 0.348 | neutral | None | None | None | None | N |
| A/R | 0.6503 | likely_pathogenic | 0.6511 | pathogenic | -0.358 | Destabilizing | 0.69 | D | 0.339 | neutral | None | None | None | None | N |
| A/S | 0.0881 | likely_benign | 0.0876 | benign | -0.858 | Destabilizing | 0.001 | N | 0.113 | neutral | N | 0.441333678 | None | None | N |
| A/T | 0.1127 | likely_benign | 0.1161 | benign | -0.811 | Destabilizing | 0.035 | N | 0.161 | neutral | N | 0.494650761 | None | None | N |
| A/V | 0.1884 | likely_benign | 0.2065 | benign | -0.181 | Destabilizing | 0.324 | N | 0.219 | neutral | N | 0.501041271 | None | None | N |
| A/W | 0.7845 | likely_pathogenic | 0.7996 | pathogenic | -0.871 | Destabilizing | 0.981 | D | 0.415 | neutral | None | None | None | None | N |
| A/Y | 0.532 | ambiguous | 0.5585 | ambiguous | -0.477 | Destabilizing | 0.818 | D | 0.381 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.